ClinVar Miner

Variants studied for malabsorption syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele uncertain risk allele not provided total
102 55 635 428 127 5 3 1 10 1316

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele uncertain risk allele not provided total
STAT1 37 19 186 241 28 0 0 0 2 507
FOXP3 32 12 120 103 43 0 3 1 0 288
SI 17 20 180 61 22 0 0 0 0 288
SARM1, SLC46A1 4 1 72 10 23 0 0 0 4 111
LCT 0 0 40 8 7 0 0 0 0 55
SLC46A1 8 1 19 4 2 0 0 0 4 35
MCM6 1 0 6 0 0 4 0 0 0 11
LCT, LOC126806353 0 0 3 1 2 0 0 0 0 6
LOC130060550, SLC46A1 1 1 4 0 0 0 0 0 0 6
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 0 0 0 2
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, JADE3, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, RGN, RP2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 0 0 0 1
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75 0 0 1 0 0 0 0 0 0 1
CACNA1F, CCDC22, CLCN5, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GPKOW, MAGIX, MIR502, MIR532, PAGE1, PAGE4, PLP2, PPP1R3F, PRICKLE3, SYP, USP27X, WDR45 0 0 1 0 0 0 0 0 0 1
CCDC22, FOXP3 0 0 1 0 0 0 0 0 0 1
IL21R 0 1 0 0 0 0 0 0 0 1
LCT, MCM6 0 0 0 0 0 1 0 0 0 1
STAT1, STAT4 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 40 21 288 332 70 0 0 0 0 751
Illumina Laboratory Services, Illumina 3 1 259 33 50 0 0 0 0 346
Fulgent Genetics, Fulgent Genetics 4 12 85 64 3 0 0 0 0 168
OMIM 52 0 0 0 0 5 0 0 0 57
Revvity Omics, Revvity 1 5 9 0 0 0 0 0 0 15
Baylor Genetics 3 4 7 0 0 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 11 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 3 0 0 0 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 0 0 8 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 5 2 0 0 0 0 0 8
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 1 1 0 3 1 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 3 0 0 0 0 0 0 0 6
3billion 3 0 2 1 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 0 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 0 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 0 0 0 3
Mendelics 2 0 1 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 1 1 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 0 1
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 1 0 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 1 1
iDNA Genomics 0 0 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 0 1
Genetics and Epigenetics Laboratory, University of Tehran 0 0 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 0 0 1

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